Phenotypes associated with the disease autism, susceptibility to, X-linked 3 (OMIM:300496, an entry in Online Mendelian Inheritance in Man):
- EEG abnormality (HP:0002353, a Human Phenotype Ontology term): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: IEA. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (OMIM:300496)
- Disturbance of facial expression (HP:0005324, a Human Phenotype Ontology term): An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. Evidence: TAS. (OMIM:300496)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: IEA. (OMIM:300496)
- Lack of peer relationships (HP:0002332, a Human Phenotype Ontology term): The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers. Evidence: IEA. (OMIM:300496)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (OMIM:300496)
- Increased serum serotonin (HP:0003144, a Human Phenotype Ontology term): A increased concentration of serotonin in the blood. Evidence: IEA. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (OMIM:300496)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: IEA. (OMIM:300496)
- Autism (HP:0000717, a Human Phenotype Ontology term): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: TAS. (OMIM:300496)
- Restrictive behavior (HP:0000723, a Human Phenotype Ontology term): Behavior characterized by an abnormal limitation to a few interests and activities. Evidence: TAS. (OMIM:300496)
- Motor stereotypy (HP:0000733, a Human Phenotype Ontology term): Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. Evidence: TAS. (OMIM:300496)
- Abnormal nonverbal communicative behavior (HP:0000758, a Human Phenotype Ontology term): Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication. Evidence: IEA. (OMIM:300496)
- X-linked inheritance (HP:0001417, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: IEA. (OMIM:300496)
- Lack of spontaneous play (HP:0000721, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:300496)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:300496)
- Inflexible adherence to routines (HP:0000732, a Human Phenotype Ontology term): A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered. Evidence: IEA. (OMIM:300496)